Autophagy in lysosomal storage disorders von Lieberman, Andrew P., Puertollano, Rosa, Raben, Nina, Slaugenhaupt, Susan, Walkley, Steven U., Ballabio, Andrea

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Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression von Davidson, Cristin D, Ali, Nafeeza F, Micsenyi, Matthew C, Stephney, Gloria, Renault, Sophie, Dobrenis, Kostantin, Ory, Daniel S, Vanier, Marie T, Walkley, Steven U

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Defective macroautophagic turnover of brain lipids in the TgCRND8 Alzheimer mouse model: prevention by correcting lysosomal proteolytic deficits von YANG, Dun-Sheng, STAVRIDES, Philip, NIXON, Ralph A, SAITO, Mitsuo, KUMAR, Asok, RODRIGUEZ-NAVARRO, Jose A, PAWLIK, Monika, CHUNFENG HUO, WALKLEY, Steven U, SAITO, Mariko, CUERVO, Ana M

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Niemann-Pick disease, type C and Roscoe Brady von Patterson, Marc C, Walkley, Steven U

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A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele von Praggastis, Maria, Tortelli, Brett, Zhang, Jessie, Fujiwara, Hideji, Sidhu, Rohini, Chacko, Anita, Chen, Zhouji, Chung, Chan, Lieberman, Andrew P, Sikora, Jakub, Davidson, Cristin, Walkley, Steven U, Pipalia, Nina H, Maxfield, Frederick R, Schaffer, Jean E, Ory, Daniel S

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Using team-based precision medicine to advance understanding of rare genetic brain disorders von Walkley, Steven U, Molholm, Sophie, Jordan, Bryen, Marion, Robert W, Wasserstein, Melissa

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Rethinking lysosomes and lysosomal disease von Walkley, Steven U.

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Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling von Fan, Martin, Sidhu, Rohini, Fujiwara, Hideji, Tortelli, Brett, Zhang, Jessie, Davidson, Cristin, Walkley, Steven U., Bagel, Jessica H., Vite, Charles, Yanjanin, Nicole M., Porter, Forbes D., Schaffer, Jean E., Ory, Daniel S.

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Neurologic, Gastric, and Opthalmologic Pathologies in a Murine Model of Mucolipidosis Type IV von Venugopal, Bhuvarahamurthy, Browning, Marsha F., Curcio-Morelli, Cyntia, Varro, Andrea, Michaud, Norman, Nanthakumar, Nanda, Walkley, Steven U., Pickel, James, Slaugenhaupt, Susan A.

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Microarray expression analysis and identification of serum biomarkers for Niemann―Pick disease, type C1 von CLUZEAU, Celine V. M, WATKINS-CHOW, Dawn E, PAVAN, William J, PORTER, Forbes D, RAO FU, BORATE, Bhavesh, YANJANIN, Nicole, DAIL, Michelle K, DAVIDSON, Cristin D, WALKLEY, Steven U, ORY, Daniel S, WASSIF, Christopher A

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Cyclodextrin alleviates neuronal storage of cholesterol in Niemann-Pick C disease without evidence of detectable blood–brain barrier permeability von Pontikis, Charles C., Davidson, Cristin D., Walkley, Steven U., Platt, Frances M., Begley, David J.

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N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV von Boudewyn, Lauren C., Sikora, Jakub, Kuchar, Ladislav, Ledvinova, Jana, Grishchuk, Yulia, Wang, Shirley L., Dobrenis, Kostantin, Walkley, Steven U.

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Macroautophagy is defective in mucolipin-1-deficient mouse neurons von Curcio-Morelli, Cyntia, Charles, Florie A, Micsenyi, Matthew C, Cao, Yi, Venugopal, Bhuvarahamurthy, Browning, Marsha F, Dobrenis, Kostantin, Cotman, Susan L, Walkley, Steven U, Slaugenhaupt, Susan A

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X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities von Sikora, Jakub, Leddy, Jennifer, Gulinello, Maria, Walkley, Steven U

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Neurons in Niemann-Pick Disease Type C Accumulate Gangliosides as Well as Unesterified Cholesterol and Undergo Dendritic and Axonal Alterations von ZERVAS, MARK, DOBRENIS, KOSTANTIN, WALKLEY, STEVEN U

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Genetic Evidence for Nonredundant Functional Cooperativity between NPC1 and NPC2 in Lipid Transport von Sleat, David E., Wiseman, Jennifer A., El-Banna, Mukarram, Price, Sandy M., Verot, Lucie, Shen, Michael M., Tint, G. Stephen, Vanier, Marie T., Walkley, Steven U., Lobel, Peter, Scott, Matthew P.

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Pregnane X Receptor (PXR) Activation: A Mechanism for Neuroprotection in a Mouse Model of Niemann-Pick C Disease von Langmade, S. Joshua, Gale, Sarah E., Frolov, Andrey, Mohri, Ikuko, Suzuki, Kinuko, Mellon, Synthia H., Walkley, Steven U., Covey, Douglas F., Schaffer, Jean E., Ory, Daniel S.

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Current concepts in the neuropathogenesis of mucolipidosis type IV von Boudewyn, Lauren C., Walkley, Steven U.

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Efficacy and ototoxicity of different cyclodextrins in Niemann–Pick C disease von Davidson, Cristin D., Fishman, Yonatan I., Puskás, István, Szemán, Julianna, Sohajda, Tamás, McCauliff, Leslie A., Sikora, Jakub, Storch, Judith, Vanier, Marie T., Szente, Lajos, Walkley, Steven U., Dobrenis, Kostantin

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Neuropathology of the Mcoln1−/− Knockout Mouse Model of Mucolipidosis Type IV von Micsenyi, Matthew C, Dobrenis, Kostantin, Stephney, Gloria, Pickel, James, Vanier, Marie T, Slaugenhaupt, Susan A, Walkley, Steven U

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